Abstract
We describe a novel missense mutation of ceruloplasmin in a patient with aceruloplasminaemia causing the replacement of a neutral amino acid (phenylalanine) with a polar one (serine) at position 198, probably leading to abnormal folding and secretion of the protein. The patient showed mild microcytic anaemia, mild hepatic iron overload, and marked brain iron overload. Six months of therapy with deferiprone was ineffective in removing iron from the tissues. Deferoxomine was more efficient in removing excess iron from the liver but aggravated the disease related anaemia. After more than one year of chelation treatment, the brain magnetic resonance imaging signal did not change. Overall, these findings indicate that treatment of iron overload in aceruloplasminaemia is a difficult challenge and that new iron chelators, more efficient in crossing the blood-brain barrier, are needed.
| Original language | English |
|---|---|
| Pages (from-to) | 756-758 |
| Number of pages | 3 |
| Journal | Gut |
| Volume | 53 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - May 2004 |
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ASJC Scopus subject areas
- Gastroenterology
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Iron chelation therapy in aceruloplasminaemia : Study of a patient with a novel missense mutation. / Mariani, R.; Arosio, C.; Pelucchi, S.; Grisoli, M.; Piga, A.; Trombini, P.; Piperno, A.
In: Gut, Vol. 53, No. 5, 05.2004, p. 756-758.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Iron chelation therapy in aceruloplasminaemia
T2 - Study of a patient with a novel missense mutation
AU - Mariani, R.
AU - Arosio, C.
AU - Pelucchi, S.
AU - Grisoli, M.
AU - Piga, A.
AU - Trombini, P.
AU - Piperno, A.
PY - 2004/5
Y1 - 2004/5
N2 - We describe a novel missense mutation of ceruloplasmin in a patient with aceruloplasminaemia causing the replacement of a neutral amino acid (phenylalanine) with a polar one (serine) at position 198, probably leading to abnormal folding and secretion of the protein. The patient showed mild microcytic anaemia, mild hepatic iron overload, and marked brain iron overload. Six months of therapy with deferiprone was ineffective in removing iron from the tissues. Deferoxomine was more efficient in removing excess iron from the liver but aggravated the disease related anaemia. After more than one year of chelation treatment, the brain magnetic resonance imaging signal did not change. Overall, these findings indicate that treatment of iron overload in aceruloplasminaemia is a difficult challenge and that new iron chelators, more efficient in crossing the blood-brain barrier, are needed.
AB - We describe a novel missense mutation of ceruloplasmin in a patient with aceruloplasminaemia causing the replacement of a neutral amino acid (phenylalanine) with a polar one (serine) at position 198, probably leading to abnormal folding and secretion of the protein. The patient showed mild microcytic anaemia, mild hepatic iron overload, and marked brain iron overload. Six months of therapy with deferiprone was ineffective in removing iron from the tissues. Deferoxomine was more efficient in removing excess iron from the liver but aggravated the disease related anaemia. After more than one year of chelation treatment, the brain magnetic resonance imaging signal did not change. Overall, these findings indicate that treatment of iron overload in aceruloplasminaemia is a difficult challenge and that new iron chelators, more efficient in crossing the blood-brain barrier, are needed.
UR - http://www.scopus.com/inward/record.url?scp=2342434172&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=2342434172&partnerID=8YFLogxK
U2 - 10.1136/gut.2003.030429
DO - 10.1136/gut.2003.030429
M3 - Article
C2 - 15082597
AN - SCOPUS:2342434172
VL - 53
SP - 756
EP - 758
JO - Gut
JF - Gut
SN - 0017-5749
IS - 5
ER -